Canonical Allele Identifier: CA1586766741
Gene: ANKHD1 HGNC NCBI
ANKHD1-EIF4EBP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140482887C= , CM000667.2:g.140482887C= GRCh38
NC_000005.9:g.139862472C= , CM000667.1:g.139862472C= GRCh37
NC_000005.8:g.139842656C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360839.7:c.1870+220C= (ANKHD1) MANE Select ENSP00000354085.2:n.1870+220C=
ENST00000246149.10:c.354+220C= (ANKHD1)
ENST00000297183.10:c.-2982+220C= (ANKHD1) ENSP00000297183.7:n.-2982+220C=
ENST00000360839.6:c.1870+220C= (ANKHD1) ENSP00000354085.2:n.1870+220C=
ENST00000412116.5:c.88+220C= (ANKHD1) ENSP00000405602.1:n.88+220C=
ENST00000421134.5:c.1927+220C= (ANKHD1) ENSP00000394489.1:n.1927+220C=
ENST00000532219.5:c.1870+220C= (ANKHD1-EIF4EBP3) ENSP00000432016.1:n.1870+220C=
NM_017747.2:c.1870+220C= (ANKHD1) NP_060217.1:n.1870+220C=
NM_020690.5:c.1870+220C= (ANKHD1-EIF4EBP3) NP_065741.3:n.1870+220C=
NM_017747.3:c.1870+220C= (ANKHD1) MANE Select NP_060217.1:n.1870+220C=
NM_020690.6:c.1870+220C= (ANKHD1-EIF4EBP3) NP_065741.3:n.1870+220C=